Chronic kidney disease differentially methylated regions are enriched for kidney-specific transcription factor binding sites. (A) The DMR and DHS sites contain consensus sequences. The transcription factor binding site motifs and their statistical enrichment from the de novo searched consensus sequences in DMR and DHS sites. (B) A specific example of an intronic DMR (within the EZR gene). The genomic location of the DMR is at the top, followed by the RefSeq representation of EZR; fetal kidney (FK)-specific DHS tracks (in blue); HKC8 cell-specific H3K4me1 and H3K4me3 tracks; HKC8 cell specific ChromHMM annotation of the locus (yellow, enhancer; red, promoter; green, transcription-associated region; the full color coding key is shown bottom right) - the sequences contain consensus-binding sites for the key kidney transcription factor SIX2/3, with the SIX2/3 binding motif illustrated as a sequence logo plot below; and adult kidney (AK)-specific H3K4me1 (blue) and H3K4me3 (green) tracks .
Ko et al. Genome Biology 2013 14:R108 doi:10.1186/gb-2013-14-10-r108